【摘要】 目的:探讨中国汉族人群中5-羟色胺转运体(5-HTT)基因与精神分裂症之间的相关性。方法:189例符合中国精神障碍分类与诊断标准第3版及美国精神障碍诊断与统计手册第4版精神分裂症诊断标准的患者(患者组)使用聚合酶链式反应扩增5-HTT基因的启动子区(5-HTTLPR)位点和内含子区(5-HTTVNTR)位点,以琼脂糖凝胶电泳分离法进行基因分型,并和300名正常人(正常对照组)进行对照。结果:患者组与正常对照组之间5-HTTLPR位点L/L、L/S和S/S基因型频率以及等位基因L、S频率分布上差异具有统计学意义(χ2=47.882,χ2=44.188;P<0.01或P<0.001);5-HTTVNTR位点12/12、12/10、10/10基因型频率和等位基因10、12频率分布上差异无统计学意义(χ2=0.335,χ2=0.051;P均>0.05)。结论:S/S基因型及S等位基因可能是精神分裂症患者的易感等位基因;5-HTTVNTR位点在中国汉族人群精神分裂症发病机制中可能不起主要作用。更多还原

【Abstract】 Objective: The aim of this study was to explore the correlation between 5-serotonin transporter gene( 5-HTT) and schizophrenia in Chinese Han population.Method: This study comprised 189 schizo-phrenic patients,who exactly met the Chinese classification and diagnostic criteria of mental disorders 3rd edi-tion and United States diagnostic and statistical manual of mental disorders 4th edition criteria for schizophrenia, compared to a control group of 300.Polymerase chain reaction was performed to amplify sites of 5-HTTLPR and 5-HTTVNTR of serotonin transporter genes and agarose gel electrophoresis method was used to get genotype.Results: For 5-HTTLPR polymorphism L /L,L /S and S /S,there were significant differences in the frequency of genotypes and allele L,S( χ2= 47.882,χ2= 44.188; P < 0.01 or P < 0.001) between schizophrenia patients and control subjects.For 5-HTTVNTR site 12 /12,12 /10 and 10 /10,there were no significant differences in the frequency of genotypes and alleles 10,12( χ2= 0.335,χ2= 0.051; all P > 0.05).Conclusion: The S / S gen-otype and S allele in schizophrenia are possibly the susceptible allele in schizophrenia; 5-HTTVNTR sites may not play a vital role in schizophrenic pathogenesy in Chinese Han population.更多还原